ORPHA:99849
Glycogen storage disease due to muscle beta-enolase deficiency
Synonyms: GSD due to muscle beta-enolase deficiency · GSDXIII · Glycogenosis due to muscle beta-enolase deficiency · Glycogenosis type 13 · Muscle enolase deficiency · Muscular enolase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to muscle beta-enolase deficiency | GSD due to muscle beta-enolase deficiency · GSDXIII · Glycogenosis due to muscle beta-enolase deficiency · Glycogenosis type 13 · Muscle enolase deficiency · Muscular enolase deficiency |
| fr | Glycogénose par déficit en bêta-énolase musculaire | Déficit en énolase musculaire · GSD par déficit en bêta-énolase musculaire · GSDXIII · Glycogénose type 13 |
| de | Glykogenose durch muskulären beta-Enolase-Mangel | Beta-Enolase-Mangel · GSDXIII · Glykogen-Speicherkrankheit durch muskulären Enolase 3-Mangel · Glykogenose Typ 13 |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de beta-enolasa muscular | GSDXIII · Glucogenosis por deficiencia de beta-enolasa muscular · Glucogenosis tipo 13 · Deficiencia de enolasa del músculo · Deficiencia de enolasa muscular · GSD por deficiencia de beta-enolasa muscular |
| it | Malattia da deposito di glicogeno dovuta a deficit di beta-enolasi muscolare | Deficit di enolasi muscolare · GSD da deficit di beta-enolasi muscolare · GSDXIII · Glicogenosi da deficit di beta-enolasi muscolare · Glicogenosi, tipo 13 |
| nl | Glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier | Deficiëntie van enolase in spier · GSD door deficiëntie van bèta-enolase in spier · GSDXIII · Glycogenose door deficiëntie van bèta-enolase in spier · Glycogenose type 13 · Musculaire deficiëntie van enolase |
| pt | Doença de armazenamento de glicogénio por deficiência de beta-enolase muscular | Glicogenose tipo 13 |
| pl | Choroba spichrzania glikogenu z powodu niedoboru beta-enolazy mięśniowej | Glikogenoza typu 13 · Glikogenoza z powodu niedoboru beta-enolazy mięśniowej · GSD z powodu niedoboru beta-enolazy mięśniowej · GSDXIII · Niedobór enolazy mięśniowej |
| cs | Glykogenóza způsobená deficitem svalové beta-enolázy | GSDXIII · Glykogenóza, typ 13 · Deficit svalové enolázy · GSD způsobená deficitem svalové beta-enolázy |
| uk | Хвороба накопичення глікогену через дефіцит мязової бета-енолази | Глікогеноз внаслідок дефіциту мязової бета-енолази · Глікогеноз типу 13 · GSD через дефіцит мязової бета-енолази · GSDXIII · Дефіцит мязової енолази · Дефіцит мязової енолази |
| zh | 肌肉β-烯醇酶缺乏所致糖原贮积症 | 肌肉β-烯醇酶缺乏所致糖原贮积症 |
| tr | Kas beta-enolaz eksikliğine bağlı glikojen depo hastalığı | GSDXIII · Glikojenoz tip 13 · Kas enolaz eksikliği · Kas enolaz eksikliği · Kas beta-enolaz eksikliğine bağlı GSD · Kas beta-enolaz eksikliğine bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612932 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0013046 | E | validated | |
| UMLS | C5566614 | E | validated | |
| GARD | 2125 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ENO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3354 | ENSG00000108515 | 131370 | 17p13.2 | enolase 3 | 11506403[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 11506403[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11506403[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
7 annotations · validated 2026-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0034633 | Reduced muscle enolase activity | |
| Very frequent (99-80%) | ||
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0003546 | Exercise intolerance | |
| HP:0009045 | Exercise-induced rhabdomyolysis | |
| Frequent (79-30%) | ||
| HP:0009051 | Increased muscle glycogen content | |
| HP:0003326 | Myalgia | |
| Occasional (29-5%) | ||
| HP:0008305 | Exercise-induced myoglobinuria | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 34485019[PMID]_31741825[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99849
- This record as JSON: /data/d/99849.json